Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

Janna Nousbeck; Ronen Spiegel; Akemi Ishida-Yamamoto; Margarita Indelman; Ayelet Shani-Adir; Noam Adir; Ehud Lipkin; Sivan Bercovici; Dan Geiger; Maurice A. van Steensel; Peter M. Steijlen; Reuven Bergman; Albrecht Bindereif; Mordechai Choder; Stavit Shalev; Eli Sprecher

doi:10.1016/j.ajhg.2008.03.014

Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

Janna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, Margarita Indelman, Ayelet Shani-Adir, Noam Adir, Ehud Lipkin, Sivan Bercovici, Dan Geiger, Maurice A. van Steensel, Peter M. Steijlen, Reuven Bergman, Albrecht Bindereif, Mordechai Choder, Stavit Shalev, Eli Sprecher^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast ortholog, Nop4p, was previously found to regulate ribosome biogenesis. Accordingly, electron microscopy revealed marked ribosome depletion and structural abnormalities of the rough endoplasmic reticulum in patient cells, ascribing ANE syndrome to the restricted group of inherited disorders associated with ribosomal dysfunction.

Original language	English
Pages (from-to)	1114-1121
Number of pages	8
Journal	American Journal of Human Genetics
Volume	82
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2008.03.014
State	Published - 9 May 2008
Externally published	Yes

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Nousbeck, J., Spiegel, R., Ishida-Yamamoto, A., Indelman, M., Shani-Adir, A., Adir, N., Lipkin, E., Bercovici, S., Geiger, D., van Steensel, M. A., Steijlen, P. M., Bergman, R., Bindereif, A., Choder, M., Shalev, S., & Sprecher, E. (2008). Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis. American Journal of Human Genetics, 82(5), 1114-1121. https://doi.org/10.1016/j.ajhg.2008.03.014

@article{4fcf410011e94624b05bf01c166f5047,

title = "Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis",

abstract = "Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast ortholog, Nop4p, was previously found to regulate ribosome biogenesis. Accordingly, electron microscopy revealed marked ribosome depletion and structural abnormalities of the rough endoplasmic reticulum in patient cells, ascribing ANE syndrome to the restricted group of inherited disorders associated with ribosomal dysfunction.",

author = "Janna Nousbeck and Ronen Spiegel and Akemi Ishida-Yamamoto and Margarita Indelman and Ayelet Shani-Adir and Noam Adir and Ehud Lipkin and Sivan Bercovici and Dan Geiger and {van Steensel}, {Maurice A.} and Steijlen, {Peter M.} and Reuven Bergman and Albrecht Bindereif and Mordechai Choder and Stavit Shalev and Eli Sprecher",

note = "Funding Information: We are grateful to the family members for their enthusiastic and generous participation in our study. We wish to thank Shirley Horn-Saban for SNP genotyping services, Vered Friedman and Rita Fuhrer-Mor for their help with nucleic acid analysis, and Gabriele Richard and Leonard D. Shultz for helpful discussions. This study was supported in part by grants provided by the Rappaport Institute for Research in the Medical Sciences. ",

year = "2008",

month = may,

day = "9",

doi = "10.1016/j.ajhg.2008.03.014",

language = "אנגלית",

volume = "82",

pages = "1114--1121",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "5",

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Nousbeck, J, Spiegel, R, Ishida-Yamamoto, A, Indelman, M, Shani-Adir, A, Adir, N, Lipkin, E, Bercovici, S, Geiger, D, van Steensel, MA, Steijlen, PM, Bergman, R, Bindereif, A, Choder, M, Shalev, S & Sprecher, E 2008, 'Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis', American Journal of Human Genetics, vol. 82, no. 5, pp. 1114-1121. https://doi.org/10.1016/j.ajhg.2008.03.014

Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis. / Nousbeck, Janna; Spiegel, Ronen; Ishida-Yamamoto, Akemi et al.
In: American Journal of Human Genetics, Vol. 82, No. 5, 09.05.2008, p. 1114-1121.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

AU - Nousbeck, Janna

AU - Spiegel, Ronen

AU - Ishida-Yamamoto, Akemi

AU - Indelman, Margarita

AU - Shani-Adir, Ayelet

AU - Adir, Noam

AU - Lipkin, Ehud

AU - Bercovici, Sivan

AU - Geiger, Dan

AU - van Steensel, Maurice A.

AU - Steijlen, Peter M.

AU - Bergman, Reuven

AU - Bindereif, Albrecht

AU - Choder, Mordechai

AU - Shalev, Stavit

AU - Sprecher, Eli

N1 - Funding Information: We are grateful to the family members for their enthusiastic and generous participation in our study. We wish to thank Shirley Horn-Saban for SNP genotyping services, Vered Friedman and Rita Fuhrer-Mor for their help with nucleic acid analysis, and Gabriele Richard and Leonard D. Shultz for helpful discussions. This study was supported in part by grants provided by the Rappaport Institute for Research in the Medical Sciences.

PY - 2008/5/9

Y1 - 2008/5/9

N2 - Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast ortholog, Nop4p, was previously found to regulate ribosome biogenesis. Accordingly, electron microscopy revealed marked ribosome depletion and structural abnormalities of the rough endoplasmic reticulum in patient cells, ascribing ANE syndrome to the restricted group of inherited disorders associated with ribosomal dysfunction.

AB - Single-gene disorders offer unique opportunities to shed light upon fundamental physiological processes in humans. We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome). By using homozygosity mapping and candidate-gene analysis, we identified a loss-of-function mutation in RBM28, encoding a nucleolar protein. RBM28 yeast ortholog, Nop4p, was previously found to regulate ribosome biogenesis. Accordingly, electron microscopy revealed marked ribosome depletion and structural abnormalities of the rough endoplasmic reticulum in patient cells, ascribing ANE syndrome to the restricted group of inherited disorders associated with ribosomal dysfunction.

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U2 - 10.1016/j.ajhg.2008.03.014

DO - 10.1016/j.ajhg.2008.03.014

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C2 - 18439547

AN - SCOPUS:42749090084

SN - 0002-9297

VL - 82

SP - 1114

EP - 1121

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

Alopecia, Neurological Defects, and Endocrinopathy Syndrome Caused by Decreased Expression of RBM28, a Nucleolar Protein Associated with Ribosome Biogenesis

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